ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.96C>T (p.Thr32=) (rs1021721320)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756787 SCV000884697 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing The p.Thr32Thr variant (rs1021721320) does not alter the amino acid sequence of the TMEM43 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) identified on a single chromosome of 246,160. Based on these observations, the p.Thr32Thr variant is likely to be benign.
GeneDx RCV000423460 SCV000536366 likely benign not specified 2017-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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